A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441240



Internal ID219721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:108078587..108078661hg38UCSC Ensembl
chr3:107797434..107797508hg19UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937548
Samples
Known GenesCD47
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441240
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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